rs369483167
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs369483167(A;A) |
Make rs369483167(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 94378967 |
Gene | CEP83 |
is a | snp |
is | mentioned by |
dbSNP | rs369483167 |
dbSNP (classic) | rs369483167 |
ClinGen | rs369483167 |
ebi | rs369483167 |
HLI | rs369483167 |
Exac | rs369483167 |
Gnomad | rs369483167 |
Varsome | rs369483167 |
LitVar | rs369483167 |
Map | rs369483167 |
PheGenI | rs369483167 |
Biobank | rs369483167 |
1000 genomes | rs369483167 |
hgdp | rs369483167 |
ensembl | rs369483167 |
geneview | rs369483167 |
scholar | rs369483167 |
rs369483167 | |
pharmgkb | rs369483167 |
gwascentral | rs369483167 |
openSNP | rs369483167 |
23andMe | rs369483167 |
SNPshot | rs369483167 |
SNPdbe | rs369483167 |
MSV3d | rs369483167 |
GWAS Ctlg | rs369483167 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs369483167(A;A) |
Alt | rs369483167(A;A) |
Reference | Rs369483167(G;G) |
Significance | Pathogenic |
Disease | Nephronophthisis 18 |
Variation | info |
Gene | CEP83 CCDC41 |
CLNDBN | Nephronophthisis 18 |
Reversed | 0 |
HGVS | NC_000012.11:g.94772743G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128444.3, |